Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
ZNF462 Q96JM2 zinc finger protein 462 Transcription factor 1.00 0.711 0.462 4 3
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462 8 14
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846 9 24
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385 10 2
ECEL1 O95672 endothelin converting enzyme like 1 Enzyme 4.8E-13 0.638 0.308 15 20
RAD21 O60216 RAD21 cohesin complex component 1.00 0.528 0.846 17 12
UTP23 Q9BRU9 UTP23 small subunit processome component 8.6E-02 0.711 0.385 17 4
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423 18 23
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846 21 38
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385 24 3
RAD51 Q06609 RAD51 recombinase 2.7E-02 0.447 0.846 26 6
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577 28 25
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 30 42
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731 31 13
TRAF7 Q6Q0C0 TNF receptor associated factor 7 2.2E-02 0.623 0.423 33 4
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 34 121
QRICH1 Q2TAL8 glutamine rich 1 Enzyme modulator 1.00 0.716 0.423 34 5
DMD P11532 dystrophin 1.00 0.423 0.923 35 305
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615 39 49
SMARCB1 Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 1.00 0.434 0.846 43 27
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808 44 16